ClinVar Miner

List of variants in gene PDHB reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.303+16T>C rs75014325 0.00417
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_000925.4(PDHB):c.701-3C>T rs377063331 0.00051
NM_000925.4(PDHB):c.301A>G (p.Met101Val) rs747573712 0.00003
NM_000925.4(PDHB):c.866T>C (p.Leu289Pro) rs371393276 0.00001
NM_000925.4(PDHB):c.139C>G (p.Leu47Val)
NM_000925.4(PDHB):c.407G>A (p.Gly136Asp)

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